Variant Results

or

Results for "ITGA8"

Variant Events: 34

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

ITGA8

68751

chr10:
15634273-15634273

G

A

exonic

De novo

nonsynonymous SNV

NM_001291494
NM_003638

c.C2197T
c.C2242T

p.R733C
p.R748C

24.2

1.0E-4

Fu2022 E
Trost2022 G

ITGA8

AU1848302

chr10:
15635413-15635413

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITGA8

mAGRE5105

chr10:
15761652-15761652

T

TTGAA

exonic

Maternal

frameshift insertion

NM_001291494
NM_003638

c.118_119insTTCA
c.118_119insTTCA

p.N40fs
p.N40fs

-

Cirnigliaro2023 G

ITGA8

SP0149994

chr10:
15729953-15729953

T

G

exonic

De novo

nonsynonymous SNV

NM_001291494
NM_003638

c.A428C
c.A428C

p.H143P
p.H143P

19.46

-

Fu2022 E

ITGA8

2-0285-004

chr10:
15810337-15810337

A

G

intergenic

De novo

-

Yuen2017 G

ITGA8

13306.p1

chr10:
15634273-15634273

G

A

exonic

De novo

nonsynonymous SNV

NM_001291494
NM_003638

c.C2197T
c.C2242T

p.R733C
p.R748C

24.2

1.0E-4

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ITGA8

1-0067-004

chr10:
15721693-15721693

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITGA8

SP0103300

chr10:
15600225-15600225

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G

ITGA8

SP0054760

chr10:
15573112-15573112

G

A

exonic

De novo

synonymous SNV

NM_001291494
NM_003638

c.C2874T
c.C2919T

p.S958S
p.S973S

-

Fu2022 E
Zhou2022 GE

ITGA8

SP0028453

chr10:
15646393-15646393

C

G

intronic

De novo

-

Fu2022 E

ITGA8

AU3787302

chr10:
15803369-15803369

G

C

intergenic

De novo

-

Yuen2017 G

ITGA8

1-0049-004

chr10:
15754987-15754987

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITGA8

1-0068-003

chr10:
15714612-15714612

A

G

intronic

De novo

-

7.0E-4

Trost2022 G
Yuen2017 G

ITGA8

2-1232-003

chr10:
15585876-15585876

G

A

intronic

De novo

-

Trost2022 G

ITGA8

MSSNG00109-005

chr10:
15587226-15587226

A

T

intronic

De novo

-

Trost2022 G

ITGA8

2-1740-003

chr10:
15560605-15560605

G

A

intronic

De novo

-

Trost2022 G

ITGA8

3-0380-001

chr10:
15577357-15577357

G

A

intronic

De novo

-

Trost2022 G

ITGA8

MSSNG00085-003

chr10:
15748275-15748275

A

T

intronic

De novo

-

Trost2022 G

ITGA8

AU2639301

chr10:
15755930-15755930

C

A

intronic

De novo

-

Trost2022 G

ITGA8

Lim2017:68751

chr10:
15634273-15634273

G

A

exonic

De novo

nonsynonymous SNV

NM_001291494
NM_003638

c.C2197T
c.C2242T

p.R733C
p.R748C

24.2

1.0E-4

Lim2017 E

ITGA8

MSSNG00339-003

chr10:
15740685-15740685

G

C

intronic

De novo

-

Trost2022 G

ITGA8

AU3900302

chr10:
15708953-15708953

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITGA8

5-0009-003

chr10:
15747462-15747462

G

T

intronic

De novo

-

Trost2022 G

ITGA8

5-1043-003

chr10:
15675812-15675812

C

A

intronic

De novo

-

Trost2022 G

ITGA8

MSSNG00084-003

chr10:
15739180-15739180

T

C

intronic

De novo

-

Trost2022 G

ITGA8

SP0176502

chr10:
15648292-15648292

T

C

exonic

De novo

nonsynonymous SNV

NM_001291494
NM_003638

c.A1849G
c.A1894G

p.S617G
p.S632G

11.53

-

Trost2022 G

ITGA8

AU2310301

chr10:
15673788-15673789

AC

A

intronic

De novo

-

Trost2022 G

ITGA8

14086.p1

chr10:
15649722-15649722

T

A

exonic

De novo

nonsynonymous SNV

NM_001291494
NM_003638

c.A1673T
c.A1718T

p.K558I
p.K573I

11.28

-

Ji2016 E

ITGA8

7-0223-003

chr10:
15762477-15762477

T

TGTGTGC

upstream

De novo

-

Trost2022 G

ITGA8

1-0079-008

chr10:
15675683-15675683

T

G

intronic

De novo

-

Yuen2017 G

ITGA8

AU4173301

chr10:
15733288-15733288

C

G

intronic

De novo

-

Yuen2017 G

ITGA8

512-04-101865

chr10:
15600168-15600168

T

A

exonic

De novo

nonsynonymous SNV

NM_001291494
NM_003638

c.A2626T
c.A2671T

p.S876C
p.S891C

18.38

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ITGA8

1-0473-003

chr10:
15779527-15779527

A

G

intergenic

De novo

-

Yuen2017 G

ITGA8

AU2381302

chr10:
15684844-15684844

T

C

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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